Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1805124
rs1805124
SCN5A
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.030 1.000 3 2009 2019
dbSNP: rs1906617
rs1906617 		1 1.000 0.080 4 110774658 intergenic variant A/G snv 0.17 0.030 1.000 3 2017 2017
dbSNP: rs199472708
rs199472708
KCNQ1
4 0.882 0.080 11 2572015 missense variant G/A snv 0.030 1.000 3 2014 2018
dbSNP: rs2220427
rs2220427 		1 1.000 0.080 4 110793733 upstream gene variant C/T snv 0.15 0.800 1.000 3 2007 2017
dbSNP: rs2288327
rs2288327
TTN ; TTN-AS1
1 1.000 0.080 2 178546938 intron variant A/G snv 0.23 0.22 0.700 1.000 3 2018 2018
dbSNP: rs2540949
rs2540949
CEP68 ; LOC107984063
1 1.000 0.080 2 65057097 intron variant A/T snv 0.39 0.700 1.000 3 2017 2018
dbSNP: rs2595104
rs2595104
PITX2
1 1.000 0.080 4 110631977 intron variant T/G snv 0.62 0.720 1.000 3 2016 2019
dbSNP: rs2634073
rs2634073 		1 1.000 0.080 4 110744627 intergenic variant T/C snv 0.70 0.710 1.000 3 2007 2015
dbSNP: rs35594137
rs35594137
GJA5 ; LOC102723321
1 1.000 0.080 1 147773393 upstream gene variant C/A;T snv 0.030 1.000 3 2011 2019
dbSNP: rs4845625
rs4845625
IL6R
9 0.851 0.080 1 154449591 intron variant T/C snv 0.60 0.030 1.000 3 2011 2014
dbSNP: rs5063
rs5063
CLCN6 ; NPPA ; NPPA-AS1
12 0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02 0.030 1.000 3 2010 2015
dbSNP: rs6490029
rs6490029
CUX2
2 0.925 0.120 12 111260653 intron variant G/A snv 0.36 0.030 1.000 3 2017 2018
dbSNP: rs7164883
rs7164883
HCN4
1 1.000 0.080 15 73359833 intron variant A/G snv 0.21 0.820 1.000 3 2012 2019
dbSNP: rs72700114
rs72700114
LINC01681
1 1.000 0.080 1 170224684 intron variant G/C snv 7.3E-02 0.700 1.000 3 2018 2018
dbSNP: rs7508
rs7508
ASAH1
1 1.000 0.080 8 18056461 3 prime UTR variant G/A snv 0.77 0.700 1.000 3 2017 2018
dbSNP: rs10213171
rs10213171
ARHGAP10
1 1.000 0.080 4 148016386 intron variant C/G snv 0.12 0.700 1.000 2 2018 2018
dbSNP: rs10465885
rs10465885
GJA5 ; LOC102723321
4 0.882 0.080 1 147760632 intron variant T/A;C snv 0.710 1.000 2 2011 2018
dbSNP: rs10520260
rs10520260
HAND2
1 1.000 0.080 4 173526198 3 prime UTR variant A/G snv 0.27 0.700 1.000 2 2018 2018
dbSNP: rs10749053
rs10749053
RBM20
1 1.000 0.080 10 110816937 intron variant T/A;C snv 0.700 1.000 2 2018 2018
dbSNP: rs10753933
rs10753933
PPFIA4
1 1.000 0.080 1 203057086 intron variant T/G snv 0.47 0.700 1.000 2 2018 2018
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.020 1.000 2 2009 2016
dbSNP: rs10773657
rs10773657
HIP1R
1 1.000 0.080 12 122843353 intron variant C/A snv 0.81 0.700 1.000 2 2018 2018
dbSNP: rs1131820
rs1131820
KCNN3
2 0.925 0.080 1 154772376 synonymous variant A/G snv 0.77 0.71 0.020 1.000 2 2011 2014
dbSNP: rs1152591
rs1152591
ESR2 ; SYNE2
1 1.000 0.080 14 64214130 intron variant A/C;G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs11708215
rs11708215
LOC101927942
1 1.000 0.080 3 149225477 intron variant A/G snv 0.19 0.020 1.000 2 2014 2017